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Diseases

Genetic and Rare Diseases Information Center (GARD)

Immunodysregulation, polyendocrinopathy and enteropathy X-linked


Other Names for this Disease
  • IPEX syndrome
  • X-linked autoimmunity-allergic dysregulation syndrome
  • XLAAD
  • IDDM secretory diarrhea syndrome
  • DMSD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a rare autoimmune disease. it affects only males and starts in the first six months of life. The symptoms of IPEX syndrome include severe diarrhea, diabetes, skin conditions (such as eczema, erythroderma, or psoriasis), and thyroid disease (thyroiditis). IPEX syndrome is caused by changes (mutations) of the FOXP3 gene, which is located on the X chromosome.[1] There are several other diseases that are very similar to the IPEX syndrome, caused by mutations in other genes and that affect both males and females.[2][3] Treatment of IPEX syndrome consists of medications that limit immune system function; a bone marrow transplantation is the only treatment that can cure the disease, but it may have several complications. Research is ongoing for new and safer treatments.[1]  
Last updated: 2/20/2016

References

  1. Hannibal MC & Torgerson T. IPEX Syndrome. GeneReviews. January 27, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1118/.
  2. Verbsky JW & Chatila TA. Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-Related Disorders: an Evolving Web of Heritable Autoimmune Diseases. Curr Opin Pediatr. December, 2013; 25(6):708–714. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4047515/.
  3. Ruemmele FM, Moes N, de Serre NP, Rieux-Laucat F & Goulet O. Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome. Current Opinion in Gastroenterology. 2008; 24:742-748. http://www.ncbi.nlm.nih.gov/pubmed/19122524.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Immunodysregulation, polyendocrinopathy and enteropathy X-linked. This website is maintained by the National Library of Medicine.

In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Immunodysregulation, polyendocrinopathy and enteropathy X-linked. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • IPEX syndrome
  • X-linked autoimmunity-allergic dysregulation syndrome
  • XLAAD
  • IDDM secretory diarrhea syndrome
  • DMSD
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.